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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term SLC2A1:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000117394	SLC2A1	1	0	141	ENSG00000117394	ENST00000426263	ENSP00000416293	solute carrier family 2 (facilitated glucose transporter), member 1 [Source:HGNC Symbol;Acc:11005]	1	43391052	43424530	-1	p34.2	43391052	43424501	SLC2A1	SLC2A1-001	HGNC Symbol	HGNC transcript name	6	52.74	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6513	11005	SLC2A1	NM_006516	27511

MSeqDR Master Exome Data Set M1: 93 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	1	43391375	T	C	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
2	1	43391499	C	A	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs55728431	0.1187	-	-	-	-	-	het	11
3	1	43391962	A	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=480:629	-	-	-	het	1
4	1	43391991	G	A	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs116589411	0.0125	-	lod=480:629	-	-	-	het	2
5	1	43392086	C	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs6413525	0.003	-	lod=198:534	-	-	-	het	5
6	1	43392125	T	C	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=198:534	-	-	-	het	2
7	1	43392233	G	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	43392250	C	G	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs4658	0.5228	-	-	-	-	-	hom	45
9	1	43392250	C	G	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs4658	0.5228	-	-	-	-	-	het	234
10	1	43392299	C	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=124:484	-	-	-	het	1
11	1	43392366	C	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs190760291	0.00095	-	lod=49:385	-	-	-	het	4
12	1	43392690	C	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	-	-	3'_UTR	rs2229683	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=31:336	-	-	-	het	6
13	1	43392783	C	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1408G>A	p.G470R	non-syn	NA	-	-	lod=65:415	TOLERATED	B	-	het	1
14	1	43392819	G	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1372C>A	p.R458R	syn	rs13306758	0.0181	T=3/G=8597;T=0/G=4406;T=3/G=13003	lod=163:514	-	-	-	het	1
15	1	43392895	G	A	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1296C>T	p.Y432Y	syn	rs75485205	0.0085	A=2/G=8598;A=43/G=4363;A=45/G=12961	lod=469:627	-	-	-	het	2
16	1	43393362	C	T	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1192G>A	p.G398S	non-syn	NA	-	-	lod=263:565	DAMAGING	B	-	het	2
17	1	43393384	G	A	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1170C>T	p.I390I	syn	rs2236574	0.0207	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=263:565	-	-	-	het	1
18	1	43394612	T	C	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1065A>G	p.L355L	syn	rs2228490	0.0945	C=8/T=8592;C=613/T=3793;C=621/T=12385	lod=24:309	-	-	-	het	13
19	1	43394666	G	A	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1011C>T	p.H337H	syn	rs2229681	0.2127	A=8/G=8592;A=1045/G=3361;A=1053/G=11953	lod=111:472	-	-	-	het	23
20	1	43394666	G	A	ENST00000426263	ENSG00000117394	43391052	43424530	ENSP00000416293	SLC2A1	-1	GTR1_HUMAN	c.1011C>T	p.H337H	syn	rs2229681	0.2127	A=8/G=8592;A=1045/G=3361;A=1053/G=11953	lod=111:472	-	-	-	hom	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding SLC2A1 1:43391052..43424530 region Gbrowse